We are proud to partner with clinicians, scientists and the Natural History Study to increase the research for Rett syndrome.

Publications of IRSF Funded Science

Measures of Attention in Rett Syndrome: Internal Consistency Reliability
Susan A. Rose, Sam V. Wass, Jeffery J. Jankowski, and Aleksandra Djukic Online First Publication, June 7, 2021.

Systematic analysis of goal-related movement sequences during maternal behaviour in a female mouse model for Rett syndrome
Parker K. Stevenson, Devin M. Casenhiser, Billy Y. B. Lau, Keerthi Krishnan
European Journal of Neuroscience, May 2021,

Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model
Vermudez SAD, Gogliotti RG, Arthur B, Buch A, Morales C, Moxley Y, Rajpal H, Conn PJ, Niswender CM. Genes Brain Behav. 2021 May 18:e12752. doi: 10.1111/gbb.12752. Epub ahead of print. PMID: 34002468.

Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome
Ketan Marballi, Jessica L. MacDonald
Neurochemistry International, Volume 148, 2021, 105076, ISSN 0197-0186, https://doi.org/10.1016/j.neuint.2021.105076

Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome
Santosh Thapa, Alamelu Venkatachalam, Nabeel Khan, Mohammed Naqvi, Miriam Balderas, Jessica K. Runge, Anthony Haag, Kathleen M. Hoch, Daniel G. Glaze, Ruth Ann Luna, Kathleen J. Motil
Published: May 6, 2021 https://doi.org/10.1371/journal.pone.0251231

Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice
Sinnett, Sarah E and Boyle, Emily and Lyons, Christopher and Gray, Steven J
Brain, 2021;, awab182, https://doi.org/10.1093/brain/awab182

Lateralized Expression of Cortical Perineuronal Nets during Maternal Experience is Dependent on MECP2
Billy Y. B. Lau, Dana E. Layo, Brett Emery, Matthew Everett, Anushree Kumar, Parker Stevenson, Kristopher G. Reynolds, Andrew Cherosky, Sarah-Anne H. Bowyer, Sarah Roth, Delaney G. Fisher, Rachel P. McCord and Keerthi Krishnan
eNeuro 24 April 2020, 7 (3) ENEURO.0500-19.2020;

Vagus nerve stimulation paired with tones restores auditory processing in a rat model of Rett syndrome
Katherine S. Adcock, Collin Chandler, Elizabeth P. Buell, Bleyda R. Solorzano, Kristofer W. Loerwald, Michael S. Borland, Crystal T. Engineer
Brain Stimulation, Volume 13, Issue 6,2020,Pages 1494-1503,ISSN 1935-861X,

Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome
Matagne V, Borloz E, Ehinger Y, Saidi L, Villard L, Roux JC. Neurobiol Dis. 2020 Dec 28;149:105235. doi: 10.1016/j.nbd.2020.105235. Epub ahead of print. PMID: 33383186.

Implementing telehealth support to increase physical activity in girls and women with Rett syndrome—ActivRett: protocol for a waitlist randomised controlled trial
Downs J, Lotan M, Elefant C, et al
BMJ Open 2020;10:e042446. doi: 10.1136/bmjopen-2020-042446

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders
Bach, S., Ryan, N.M., Guasoni, P. et al. 
Sci Rep 10, 22255 (2020). https://doi.org/10.1038/s41598-020-79268-0

Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome
Merritt JK, Collins BE, Erickson KR, Dong H, Neul JL.
Hum Mol Genet. 2020 Aug 29;29(15):2461-2470. doi: 10.1093/hmg/ddaa102.
PMID: 32469049; PMCID: PMC7471501.

Deficits in skilled motor and auditory learning in a rat model of Rett syndrome
Adcock, K.S., Blount, A.E., Morrison, R.A. et al.
J Neurodevelop Disord 12, 27 (2020). https://doi.org/10.1186/s11689-020-09330-5

Deep learning of spontaneous arousal fluctuations detects early cholinergic defects across neurodevelopmental mouse models and patients
Pietro Artoni, Arianna Piffer, Viviana Vinci, Jocelyn LeBlanc, Charles A. Nelson, Takao K. Hensch, and Michela Fagiolini. PNAS September 22, 2020 117 (38) 23298-23303; first published July 22, 2019;

Multisystem comorbidities in classic Rett syndrome: a scoping review
Fu C, Armstrong D, Marsh E, et al. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr Open. 2020;4(1):e000731. Published 2020 Sep 22. doi:10.1136/bmjpo-2020-000731

Determinants of quality of life in Rett syndrome: new findings on associations with genotype
Mendoza J, Downs J, Wong K, et al,
Journal of Medical Genetics Published Online First: 25 August 2020.
doi: 10.1136/jmedgenet-2020-107120

Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome
Merbler AM, Byiers BJ, Hoch J, et al. J Child Neurol. 2020;35(1):42-48. doi:10.1177/0883073819875915

Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity
Byiers, Breanne & Merbler, Alyssa & Barney, Chantel & Frenn, Kristin & Panoskaltsis-Mortari, Angela & Ehrhardt, Michael & Feyma, Timothy & Beisang, Arthur & Symons, Frank. (2020). Brain, Behavior, & Immunity – Health. 1. 100008. 10.1016

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome, Gillian S. Townend, Theresa E. Bartolotta, Anna Urbanowicz, Helena Wandin & Leopold M.G. Curfs (2020)Augmentative and Alternative Communication, DOI: 10.1080/07434618.2020.1785009 

Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome, Conor Keogh, Giorgio Pini, Ilaria Gemo, Walter E. Kaufmann, and Daniela Tropea, Brain Sci. 2020, 10(8), 515; 

Coassembly of a1-GABA A Rs Associated with Epileptic Encephalopathy
Hannan S, Affandi AHB, Minere M, et al. 
J Neurosci. 2020;40(29):5518-5530. doi:10.1523/JNEUROSCI.2748-19.2020

Pharmacological readthrough of R294X Mecp2 in a novel mouse model of Rett Syndrome
Jonathan K Merritt, Bridget E Collins, Kirsty R Erickson, Hongwei Dong, Jeffrey L Neul
Human Molecular Genetics, ddaa102, https://doi.org/10.1093/hmg/ddaa102e10889

Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain
Aldinger, K.A., Timms, A.E., MacDonald, J.W. et al. Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain. Sci Data 7, 192 (2020). https://doi.org/10.1038/s41597-020-0527-2

Vitamin D Supplementation Rescues Aberrant NF-?B Pathway Activation and Partially Ameliorates Rett Syndrome Phenotypes in Mecp2 Mutant Mice
Mayara C. Ribeiro, Seth M. Moore, Noriyuki Kishi, Jeffrey D. Macklis and Jessica L. MacDonald
eNeuro 11 May 2020, 7 (3) ENEURO.0167-20.2020

AIM2 inflammasome surveillance of DNA damage shapes neurodevelopment
Lammert, C.R., Frost, E.L., Bellinger, C.E. et al. AIM2 inflammasome surveillance of DNA damage shapes neurodevelopment. Nature(2020)

Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: A distinct grey-white matter variation [published online ahead of print, 2020 Apr 4].
Pejhan S, Mok Siu V, Ang LC, Del Bigio MR, Rastegar M.
Neuropathol Appl Neurobiol. 2020;10.1111/nan.12619. doi:10.1111/nan.12619

Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice
Yann Ehinger, Julie Bruyère, Nicolas Panayotis, Yah Se Abada, Emilie Borloz, Valérie Matagne, Chiara Scaramuzzino, Hélène Vitet, Benoit Delatour, Lydia Saidi, Laurent Villard, Frédéric Saudou, Jean Christophe Roux
EMBO Mol Med (2020) 12: e10889 https://doi.org/10.15252/emmm.201910889

Special Education Supports and Services for Rett Syndrome: Parent Perceptions and Satisfaction
Kelsey Larriba-Quest, Breanne J. Byiers, Arthur Beisang, Alyssa M. Merbler, and Frank J. Symons
Intellectual and Developmental Disabilities 2020 58:1, 49-64

Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut
Lin Yang, Eda Yildirim, James E. Kirby, William Press, Jeannie T. Lee
Proceedings of the National Academy of Sciences Feb 2020, 201917203; DOI: 10.1073/pnas.1917203117

Maternal experience-dependent cortical plasticity in mice is circuit- and stimulus-specific and requires MECP2
Billy Y. B. Lau, Keerthi Krishnan, Z. Josh Huang, Stephen D. Shea
Journal of Neuroscience 7 January 2020, 1964-19; DOI: 10.1523/JNEUROSCI.1964-19.2019

ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome
Kaufmann W, Sprouse J, Rebowe N, Hanania T, Klamer D, Missling C.
Pharmacology Biochemistry and Behavior, Volume 187, December 2019, 172796
ISSN 0091-3057

The role of MeCP2 in learning and memory.
Robinson HA, Pozzo-Miller L.
Learn Mem. 2019 Aug 15;26(9):343-350. doi: 10.1101/lm.048876.118. Print 2019 Sep.
PMID: 31416907

Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.
Krishnaraj R, Haase F, Coorey B, Luca EJ, Wong I, Boyling A, Ellaway C, Christodoulou J, Gold WA.
Hum Mutat. 2019 Aug 5. doi: 10.1002/humu.23887. [Epub ahead of print] Review.
PMID: 31379106

DNA Methylation Contributes to the Differential Expression Levels of Mecp2 in Male Mice Neurons and Astrocytes.
Liyanage VRB, Olson CO, Zachariah RM, Davie JR, Rastegar M.
Int J Mol Sci. 2019 Apr 14;20(8). pii: E1845. doi: 10.3390/ijms20081845.
PMID: 31013990

Sensory Integration and Functional Reaching in Children With Rett Syndrome/Rett-Related Disorders
Wendy Drobnyk, Karen Rocco, Sara Davidson, Susan Bruce, Fang Zhang, Stephen B Soumerai
First Published August 26, 2019.HTTPS://DOI.ORG/10.1177/1179556519871952

Exosomes regulate neurogenesis and circuit assembly
Pranav Sharma, Pinar Mesci, Cassiano Carromeu, Daniel R. McClatchy, Lucio Schiapparelli, John R. Yates III, Alysson R. Muotri, and Hollis T. Cline
Proc Natl Acad Sci USA. 2019 Jul 18. pii: 201902513. doi: 10.1073/pnas.1902513116.
PMID: 31320591

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.
Banerjee A, Miller MT, Li K, Sur M, Kaufmann WE.
Brain. 2019 Jan 12.
PMID: 30649225

Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome.
Müller M.
Neurosci Biobehav Rev. 2019 Jan 9.
PMID: 30639673

Spoken word processing in Rett syndrome: Evidence from event-related potentials.
Key AP, Jones D, Peters S.
Int J Dev Neurosci. 2019 Jan 7
PMID: 30630072

MECP2 Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.
Olson CO, Pejhan S, Kroft D, Sheikholeslami K, Fuss D, Buist M, Ali Sher A, Del Bigio MR, Sztainberg Y, Siu VM, Ang LC, Sabourin-Felix M, Moss T, Rastegar M.
Front Genet. 2018 Dec.
PMID: 30619462

Impaired Visual Search in Children with Rett Syndrome
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.
Pediatr Neurol. 2018 Oct 18.
PMID: 30573328

Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders
Fisher NM, Seto M, Lindsley CW, Niswender CM.
Front Mol Neurosci. 2018 Oct 23;11:387. doi: 10.3389/fnmol.2018.00387. eCollection 2018. Review.
PMID: 30405350

Loss of MeCP2 in immature neurons leads to impaired network integration.
Sun Y, Gao Y, Tidei JJ, Shen M, Hoang JT, Wagner D, Zhao X.
Hum Mol Genet. 2018 Oct 1. doi: 10.1093/hmg/ddy338.
PMID: 30277526

Loss of Mecp2 Causes Atypical Synaptic and Molecular Plasticity of Parvalbumin-Expressing Interneurons Reflecting Rett Syndrome-Like Sensorimotor Defects.
Morello N, Schina R, Pilotto F, Phillips M, Melani R, Plicato O, Pizzorusso T, Pozzo-Miller L, Giustetto M.
eNeuro. 2018 Sep 24;5(5). pii: ENEURO.0086-18.2018. doi: 10.1523/ENEURO.0086-18.2018. eCollection 2018 Sep-Oct
PMID: 30255129

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices.
Boban S, Leonard H, Wong K, Wilson A, Downs J.
Am J Med Genet A. 2018 Apr 28
PMID: 29704311

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
O’Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Mayor Torres JM, Nelson CA 3rd, Sahin M.
Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. eCollection 2018 Mar.
PMID: 29560377

Total RNA-sequencing of Rett Syndrome Autopsy Samples Identifies the M4 Muscarinic Receptor as a Novel Therapeutic Target.
Gogliotti R, Fisher N, Stansley B, Jones C, Lindsley C, Conn J, Niswender C.
J Pharmacol Exp Ther. 2018 Mar 9.
PMID: 29523700

The feasibility of using actigraphy to characterize sleep in Rett syndrome.
Merbler AM, Byiers BJ, Garcia JJ, Feyma TJ, Symons FJ.
J Neurodev Disord. 2018 Feb 27;10(1):8.
PMID: 29482495

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.
Downs J, Rodger J, Li C, Tan X, Hu N, Wong K, de Klerk N, Leonard H.
Orphanet J Rare Dis. 2018 Jan 10;13(1):3. doi: 10.1186/s13023-017-0752-8.
PMID: 29321033

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome.
Clarkson T, LeBlanc J, DeGregorio G, Vogel-Farley V, Barnes K, Kaufmann WE, Nelson CA.
Intellect Dev Disabil. 2017 Dec;55(6):419-431. doi: 10.1352/1934-9556-55.6.419.

Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.
Fisher NM, Gogliotti RG, Vermudez SAD, Stansley BJ, Conn PJ, Niswender CM
ACS Chem Neurosci. 2017 Dec 14. doi: 10.1021/acschemneuro.7b00414. [Epub ahead of print]
PMID: 29227625

Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.
Johnson BS, Zhao YT, Fasolino M, Lamonica JM, Kim YJ, Georgakilas G, Wood KH, Bu D, Cui Y, Goffin D, Vahedi G, Kim TH, Zhou Z.
Nat Med. 2017 Sep 18.
PMID: 28920956

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome.
Glaze DG, Neul JL, Percy A, Feyma T, Beisang A, Yaroshinsky A, Stoms G, Zuchero D, Horrigan J, Glass L, Jones NE.
Pediatr Neurol. 2017 Jul 8. pii: S0887-8994(17)30405-8. doi: 10.1016/j.pediatrneurol.2017.07.002. [Epub ahead of print]
PMID: 28964591

Distinguishing response to names in Rett and MECP2 Duplication syndrome: An ERP study of auditory social information processing.
Sarika UP, Ashley K, Dorita J, Alexandra PK
Brain Res. 2017 Sep 1
PMID: 28870827

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.
Dy ME, Waugh JL, Sharma N, O’Leary H, Kapur K, D’Gama AM, Sahin M, Urion DK, Kaufmann WE
Pediatr Neurol. 2017 Jun 2. pii: S0887-8994(17)30406-X. doi: 10.1016/j.pediatrneurol.2017.05.025. [Epub ahead of print]
PMID: 28838622

mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome.
Gogliotti RG, Senter RK, Fisher NM, Adams J, Zamorano R, Walker AG, Blobaum AL, Engers DW, Hopkins CR, Daniels JS, Jones CK, Lindsley CW, Xiang Z, Conn PJ, Niswender CM.
Sci Transl Med. 2017 Aug 16;9(403). pii: eaai7459. doi: 10.1126/scitranslmed.aai7459.
PMID: 28814546

A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice.
Li W, Bellot-Saez A, Phillips ML, Yang T, Longo FM, Pozzo-Miller L.
Dis Model Mech. 2017 Jul 1;10(7):837-845
PMID: 28679669

Vagus nerve stimulation as a potential adjuvant to behavioral therapy for autism and other neurodevelopmental disorders
Crystal T. Engineer, Seth A. Hays, and Michael P. Kilgard
Journal of Neurodevelopmental Disorders20179:20 DOI: 10.1186/s11689-017-9203-z

EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rettsyndrome mice.
Xu X, Pozzo-Miller L
J Physiol. 2017 Jun 16
PMID: 28621434

RettBASE: Rett Syndrome Database Update
Krishnaraj R, Ho G, Christodoulou J.
Hum Mutat. 2017 May 25.
PMID: 28544139

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in aninternational database study.
Mackay J, Downs J, Wong K, Heyworth J, Epstein A, Leonard H.
J Neurodev Disord. 2017 Apr 28;9:15. doi:
10.1186/s11689-017-9196-7. eCollection 2017.
PMID: 28465761

Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-likephenotypes.
Lamonica JM, Kwon DY, Goffin D, Fenik P, Johnson BS, Cui Y, Guo H, Veasey S, Zhou Z.
J Clin Invest. 2017 May 1;127(5):1889-1904. doi: 10.1172/JCI90967. Epub 2017 Apr 10.
PMID: 28394263

Sustainedattention in the face of distractors: A study of children with Rett syndrome.
Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.
Neuropsychology. 2017 May;31(4):403-410. doi:
10.1037/neu0000369. Epub 2017 Apr 6.
PMID: 28383972

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.
PMID: 28347601

Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome.
Shapiro JR, Boskey AL, Doty SB, Lukashova L, Blue ME. Bone. 2017 Jun;99:1-7. doi: 10.1016/j.bone.2017.03.040. Epub 2017 Mar 18.
PMID: 28323142

Quantification of walking-based physical activity and sedentary time in individuals with Rettsyndrome.
Downs J, Leonard H, Wong K, Newton N, Hill K.
Dev Med Child Neurol. 2017 Jun;59(6):605-611. doi: 10.1111/dmcn.13398. Epub 2017 Feb 6.
PMID: 28164278

InfluenzaA induces dysfunctional immunity and death in MeCP2-overexpressing mice.
Cronk JC, Herz J, Kim TS, Louveau A, Moser EK, Sharma AK, Smirnov I, Tung KS, Braciale TJ, Kipnis J.
JCI Insight. 2017 Jan 26;2(2):e88257. doi: 10.1172/jci.insight.88257.
PMID: 28138553

MECP2 regulates cortical plasticity underlying a learned behaviour in adult female mice.
Krishnan K, Lau BY, Ewall G, Huang ZJ, Shea SD.
Nat Commun. 2017 Jan 18;8:14077. doi: 10.1038/ncomms14077.
PMID: 28098153

Natural History Study

Learn more about the published work coming out of the Rett Syndrome Natural History Study.

Multisite Study of Evoked Potentials in Rett Syndrome
Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED.
Ann Neurol. 2021 Jan 22. doi: 10.1002/ana.26029. Epub ahead of print. PMID: 33480039.

Consensus guidelines on managing Rett syndrome across the lifespan
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Nues P, Lane J, Dinkel T, Coenraads M, von Hehn J, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T.
BMJ Paediatr Open. 2020 Sep 13;4(1):e000717. doi: 10.1136/bmjpo-2020-000717. PMID: 32984552; PMCID: PMC7488790.

Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED; Rett and Rett related disorders natural history study.
Ann Neurol. 2020 May 30. doi: 10.1002/ana.25797. Epub ahead of print. PMID: 32472944

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings
Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG and Percy AK (2020) Front. Integr. Neurosci. 14:7. doi: 10.3389/fnint.2020.00007

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials.
Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL.
Am J Intellect Dev Disabil. 2020 Nov 1;125(6):493-509. doi: 10.1352/1944-7558-125.6.493.
PMID: 33211820

Phenotypic features in MECP2 duplication syndrome: Effects of age.
Peters SU, Fu C, Marsh ED, Benke TA, Suter B, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Glaze DG, Percy AK, Neul JL.
Am J Med Genet A. 2020 Nov 10. doi: 10.1002/ajmg.a.61956. Online ahead of print.
PMID: 33170557

Multisystem comorbidities in classic Rett syndrome: a scoping review.
Fu C, Armstrong D, Marsh E, Lieberman D, Motil K, Witt R, Standridge S, Lane J, Dinkel T, Jones M, Hale K, Suter B, Glaze D, Neul J, Percy A, Benke T.
BMJ Paediatr Open. 2020 Sep 22;4(1):e000731. doi: 10.1136/bmjpo-2020-000731. eCollection 2020.
PMID: 33024833 Free PMC article. Review.

Cortisol profiles and clinical severity in MECP2 duplication syndrome.
Peters SU, Fu C, Neul JL, Granger DA.
J Neurodev Disord. 2020 Jul 22;12(1):19. doi: 10.1186/s11689-020-09322-5.
PMID: 32698758 Free PMC article.

Biliary Tract Disease in Girls and Young Women with Rett Syndrome.
Motil KJ, Lane JB, Barrish JO, Annese F, Geerts S, McNair L, Skinner SA, Neul JL, Glaze DG, Percy AK.
J Pediatr Gastroenterol Nutr. 2019 Jan 17

Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE. Behavioral profiles in Rett syndrome: Data from the Natural History Study. Brain and Dev 41:123-134, 2019. DOI: 10.1016/j.braindev.2018.08.008. [PMID: PMC6392009]

Neul JL, Benke T, Marsh E, Skinner SA, Merritt J, Lieberman D, Standridge S, Feyma T, Heydemann P, Peters S, Ryther RC , Jones MD, Suter B, Kaufmann W, Glaze D, Percy AK. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. Am J Med Genet 180:55-67, 2019. DOI:1002/ajmg.b.32707 [PMID: PMC6488031]

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15.
PMID: 30788845 Free PMC article.

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.
Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE.
Neurology. 2019 May 28;92(22):e2594-e2603. doi: 10.1212/WNL.0000000000007560. Epub 2019 May 3.
PMID: 31053667 Free PMC article. Clinical Trial.

Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA.
Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27.
PMID: 31147226 Free PMC article. Review.

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.
Am J Med Genet B Neuropsychiatr Genet. 2018 Dec 7.
PMID: 30536762

Behavioral profiles in Rett syndrome: Data from the natural history study.
Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.
Brain Dev. 2018 Sep 11. pii: S0387-7604(18)30305-X. doi: 10.1016/j.braindev.2018.08.008. [Epub ahead of print]
PMID: 30217666

The course of awake breathing disturbances across the lifespan in Rett syndrome.
Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK.
Brain Dev. 2018 Apr 12.
PMID: 29657083

When Rett syndrome is due to genes other than MECP2.
Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL.
Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021.
PMID: 29682453 Free PMC article.

Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.
Brain. 2017 Feb;140(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.
PMID: 28007990 [PubMed – in process]

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL.
Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12.
PMID: 27171548 [PubMed – in process] Free PMC Article

Detecting autonomic response to pain in Rett syndrome.
O’Leary HM, Marschik PB, Khwaja OS, Ho E, Barnes KV, Clarkson TW, Bruck NM, Kaufmann WE.
Dev Neurorehabil. 2017 Feb;20(2):108-114. doi: 10.3109/17518423.2015.1087437. Epub 2015 Oct 12.
PMID: 26457613 [PubMed – indexed for MEDLINE]

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.
PMID: 28347601

Assessment of Caregiver Inventory for Rett Syndrome.
Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
J Autism Dev Disord. 2017 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3.
PMID: 28132121

Longitudinal course of epilepsy in Rett syndrome and related disorders.
Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.
Brain. 2017 Feb;140(Pt 2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.
PMID: 28007990

Sajan, SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann
WE, Skinner SA, Friez MJ, Percy AK, Neul JL. Rett Syndrome that is not caused by mutations in MECP2, CDKL5, and FOXG1 is genetically complex, heterogeneous, and enriched in mutations in chromatin regulators. Genet in Med. DOI: 10.1038/gim.2016.42.[PMCID: PMC5107176]

Ward CS, Huang T-W, Herrera JA, Samaco RC, Pitcher MR, Herron A,
Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL. Loss of MeCP2 causes urological dysfunction and contributes to death by kidney failure in mouse models of Rett Syndrome. PloS One PONE-D-16-11130R1, 2016. [PMCID: PMC5102405]

Sheikh T, Ausio J, Faghfoury H, Silver J, Lane J, Eubanks J, MacLeod P, Percy A,
Vincent J. From Function to Phenotype: Impaired DNA Binding and ClusteringCorrelates with Phenotypic Severity in Males with Missense Variants in MeCP2.
Sci Rep. 6:38590, 2016. doi: 10.1038/srep38590. PMCID: [PMC5144150]

Percy AK. Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-332, 2016.

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
Killian JT Jr, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.
Pediatr Neurol. 2016 May;58:67-74. doi: 10.1016/j.pediatrneurol.2015.12.021. Epub 2016 Jan 11.
PMID: 26995066 Free PMC article.

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.
Herrera JA, Ward CS, Pitcher MR, Percy AK, Skinner S, Kaufmann WE, Glaze DG, Wehrens XH, Neul JL.
Dis Model Mech. 2015 Apr;8(4):363-71. doi: 10.1242/dmm.020131. Epub 2015 Feb 20.
PMID: 25713300 Free PMC article.

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.
Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O’Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK.
Pediatr Neurol. 2015 Jun;52(6):585-91.e2. doi: 10.1016/j.pediatrneurol.2015.02.007. Epub 2015 Feb 16.
PMID: 25801175 Free PMC article.

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale.
Neul JL, Glaze DG, Percy AK, Feyma T, Beisang A, Dinh T, Suter B, Anagnostou E, Snape M, Horrigan J, Jones NE.
J Child Neurol. 2015 Nov;30(13):1743-8. doi: 10.1177/0883073815579707. Epub 2015 Apr 20.
PMID: 25895911 Free PMC article. Clinical Trial.

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.
Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK.
Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26.
PMID: 26278631 Free PMC article.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.
J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

Kalman L., Tarleton J., Percy A., Aradhya S., Bale S., Barker S., Bayrak-Toydemir
P., Bridges C., Buller-Burckle A., Das S., Iyer R., Vo T., Zvereff V., Toji L.
Development of a genomic DNA reference material panel for Rett Syndrome
(MECP2-related disorders) Genetic Testing. J Molec Diagn. 16:273-279,2014
(published online http://dx.doi.org/10.1016/j.jmoldx.2013.11.004. [PMID:PMC3937532]

Developmental delay in Rett syndrome: data from the natural history study.
Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK.
J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22.
PMID: 25071871 Free PMC article.

Pubertal development in Rett syndrome deviates from typical females.
Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK.
Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29.
PMID: 25283752 Free PMC article. Clinical Trial.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK.
Am J Med Genet A. 2013 Jul;161A(7):1638-46. doi: 10.1002/ajmg.a.35979. Epub 2013 May 21.
PMID: 23696494 Free PMC article.

Growth failure and outcome in Rett syndrome: specific growth references.
Tarquinio DC, Motil KJ, Hou W, Lee HS, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK.
Neurology. 2012 Oct 16;79(16):1653-61.

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.
Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, Percy AK, Annese F, McNair L, Skinner SA, Lee HS, Neul JL, Glaze DG.
J Pediatr Gastroenterol Nutr. 2012 Sep;55(3):292-8.

Clinical severity and quality of life in children and adolescents with Rett syndrome.
Lane JB, Lee HS, Smith LW, Cheng P, Percy AK, Glaze DG, Neul JL, Motil KJ, Barrish JO, Skinner SA, Annese F, McNair L, Graham J, Khwaja O, Barnes K, Krischer JP.
Neurology. 2011 Nov 15;77(20):1812-8.

Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG.
J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74.

Percy A. Rett Syndrome: Exploring the Autism Link. Arch Neurol 68:985-989,
2011. [PMID: PMC3674963]

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome.
McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, Ward CS, Skinner S, Percy AK, Glaze DG, Wehrens XH, Neul JL.
Sci Transl Med. 2011 Dec 14;3(113):113ra125. doi: 10.1126/scitranslmed.3002982.
PMID: 22174313 Free PMC article.

Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.
Ann Neurol. 2010 Dec;68(6):944-50.

Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K.
Ann Neurol. 2010 Dec;68(6):951-5.

Profiling scoliosis in Rett syndrome.
Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG.
Pediatr Res. 2010 Apr;67(4):435-9.

Epilepsy and the natural history of Rett syndrome.
Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS.
Neurology. 2010 Mar 16;74(11):909-12.

Longevity in Rett syndrome: analysis of the North American Database.
Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK.
J Pediatr. 2010 Jan;156(1):135-138.

Complexities of Rett syndrome and MeCP2.
Samaco RC, Neul JL.
J Neurosci. 2011 Jun 1;31(22):7951-9. doi: 10.1523/JNEUROSCI.0169-11.2011.
PMID: 21632916 Free PMC article. Review. No abstract available.

Gastrostomy placement improves height and weight gain in girls with Rett syndrome.
Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG.
J Pediatr Gastroenterol Nutr. 2009 Aug;49(2):237-42.

Griggs RC, Matshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA, and the Rare Disease Consortium. Rare Diseases Clinical
Research Network. Mol Genet Metab 96:20-26, 2009. [PMID: PMC3134795]

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG.
Neurology. 2008 Apr 15;70(16):1313-21.

Percy AK. Rett Syndrome: From Recognition to Diagnosis to Intervention. Expert
Review of Endocrinology & Metabolism 3:327-336,2008.

Rett syndrome: North American database.
Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P.
J Child Neurol. 2007 Dec;22(12):1338-41.


General Rett Syndrome Publications

Rahn, R. M., Yen, A., Chen, S., et al. (2021). Mecp2 deletion results in profound alterations of developmental and adult functional connectivity. BioRxiv. https://doi.org/10.1101/2021.10.28.466323

Li, J., Kells, P. A., Osgood, A. C., et al. (2021). Collapse of complexity of brain and body activity due to excessive inhibition and MeCP2 disruption. Proceedings of the National Academy of Sciences of the United States of America118(43). https://doi.org/10.1073/pnas.2106378118

Yue, Y., Xu, P., Liu, Z., et al. (2021). Motor training improves coordination and anxiety in symptomatic Mecp2-null mice despite impaired functional connectivity within the motor circuit. Science Advances7(43), eabf7467. https://doi.org/10.1126/sciadv.abf7467

Murasawa, H., Kobayashi, H., Imai, J., et al. (2021). Substantial acetylcholine reduction in multiple brain regions of Mecp2-deficient female rats and associated behavioral abnormalities. Plos One16(10), e0258830. https://doi.org/10.1371/journal.pone.0258830

Kim, H. J., Bayarsaikhan, D., Lee, J., et al. (2021). Brain-Derived Neurotrophic Factor Secreting Human Mesenchymal Stem Cells Improve Outcomes in Rett Syndrome Mouse Models. Frontiers in Neuroscience15, 725398. https://doi.org/10.3389/fnins.2021.725398

Liu, S., Pei, P., Li, L., et al. (2021). Mitochondrial DNA copy number in rett syndrome caused by MECP2 variants. The Journal of Pediatrics. https://doi.org/10.1016/j.jpeds.2021.09.052

Belaïdouni, Y., Diabira, D., Zhang, J., et al. (2021). The Chloride Homeostasis of CA3 Hippocampal Neurons Is Not Altered in Fully Symptomatic Mepc2-null Mice. Frontiers in Cellular Neuroscience15, 724976. https://doi.org/10.3389/fncel.2021.724976

Jiang, Y., Fu, X., Zhang, Y., et al. (2021). Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models. Nature Communications12(1), 5767. https://doi.org/10.1038/s41467-021-26084-3

Gigliucci, V., Teutsch, J., Woodbury-Smith, M., et al. (2021). Region-specific KCC2 rescue by rhIGF-1 and oxytocin in a mouse model of Rett syndrome. BioRxiv. https://doi.org/10.1101/2021.09.25.460342

Lebrun, N., Delépine, C., Selloum, M., et al. (2021). HDAC inhibitor ameliorates behavioral deficits in Mecp2308/y mouse model of Rett syndrome. Brain Research, 147670. https://doi.org/10.1016/j.brainres.2021.147670

Golubiani, G., Lagani, V., Solomonia, R., & Müller, M. (2021). Metabolomic Fingerprint of Mecp2-Deficient Mouse Cortex: Evidence for a Pronounced Multi-Facetted Metabolic Component in Rett Syndrome. Cells10(9). https://doi.org/10.3390/cells10092494

Haase, F., Gloss, B. S., Tam, P. P. L., & Gold, W. A. (2021). WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome. International Journal of Molecular Sciences22(18). https://doi.org/10.3390/ijms22189954

Mao, Y., Evans, E. E., Mishra, V., et al. (2021). Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model. International Journal of Molecular Sciences22(17). https://doi.org/10.3390/ijms22179465

Milla, B. M. (2021). Loss of MeCP2 increases GABA uptake by astrocytes to suppress tonic inhibition of CA1 pyramidal neurons. Journal of Neurophysiology. https://doi.org/10.1152/jn.00222.2021

Stroppel, A. S., Lappalainen, R., & Stafforst, T. (2021). Controlling Site-Directed RNA Editing by Chemically Induced Dimerization. Chemistry – A European Journal27(48), 12300–12304. https://doi.org/10.1002/chem.202101985

Korsakova, E., Morales, A., McDaniel, T., et al. (2021). Defining dysfunction due to loss of MECP2 in Rett Patient Brain. BioRxiv. https://doi.org/10.1101/2021.08.24.457297

Buist, M., Fuss, D., & Rastegar, M. (2021). Transcriptional Regulation of MECP2E1-E2 Isoforms and BDNF by Metformin and Simvastatin through Analyzing Nascent RNA Synthesis in a Human Brain Cell Line. Biomolecules11(8). https://doi.org/10.3390/biom11081253

Samarasinghe, R. A., Miranda, O. A., Buth, J. E., et al. (2021). Identification of neural oscillations and epileptiform changes in human brain organoids. Nature Neuroscience24(10), 1488–1500. https://doi.org/10.1038/s41593-021-00906-5

Huang, J.-L., Zhang, F., Su, M., et al. (2021). MeCP2 prevents age-associated cognitive decline via restoring synaptic plasticity in a senescence-accelerated mouse model. Aging Cell20(9), e13451. https://doi.org/10.1111/acel.13451

Pan, W., Xu, X., Zhang, M., & Song, X. (2021). Human urine-derived stem cell-derived exosomal miR-21-5p promotes neurogenesis to attenuate Rett syndrome via the EPha4/TEK axis. Laboratory Investigation101(7), 824–836. https://doi.org/10.1038/s41374-021-00574-w

Unterman, I., Bloch, I., Cazacu, S., et al. (2021). Expanding the MECP2 network using comparative genomics reveals potential therapeutic targets for Rett syndrome. ELife10. https://doi.org/10.7554/eLife.67085

Dionisie, V., Ciobanu, A. M., Toma, V. A., et al. (2021). Escitalopram Targets Oxidative Stress, Caspase-3, BDNF and MeCP2 in the Hippocampus and Frontal Cortex of a Rat Model of Depression Induced by Chronic Unpredictable Mild Stress. International Journal of Molecular Sciences22(14). https://doi.org/10.3390/ijms22147483

Villani, C., Carli, M., Castaldo, A. M., et al. (2021). Fluoxetine increases brain MeCP2 immuno-positive cells in a female Mecp2 heterozygous mouse model of Rett syndrome through endogenous serotonin. Scientific Reports11(1), 14690. https://doi.org/10.1038/s41598-021-94156-x

Hung, P.-L., Wu, K. L. H., Chen, C.-J., et al. (2021). Music-Based Intervention Ameliorates Mecp2-Loss-Mediated Sociability Repression in Mice through the Prefrontal Cortex FNDC5/BDNF Pathway. International Journal of Molecular Sciences22(13). https://doi.org/10.3390/ijms22137174

Lee, W., Mariappan, R., De, K., & Ohn, T. (2021). Loss of MeCP2 causes subtle alteration in dendritic arborization of retinal ganglion cells. Animal Cells and Systems25(2), 102–109. https://doi.org/10.1080/19768354.2021.1920459

Vashi, N., Ackerley, C., Post, M., & Justice, M. J. (2021). Aberrant lung lipids cause respiratory impairment in a Mecp2-deficient mouse model of Rett syndrome. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddab182

Carstens, K. E., Lustberg, D. J., Shaughnessy, E. K., et al. (2021). Perineuronal net degradation rescues CA2 plasticity in a mouse model of Rett syndrome. The Journal of Clinical Investigation131(16). https://doi.org/10.1172/JCI137221

Zocher, S., Overall, R. W., Lesche, M., et al. (2021). Environmental enrichment preserves a young DNA methylation landscape in the aged mouse hippocampus. Nature Communications12(1), 3892. https://doi.org/10.1038/s41467-021-23993-1

Haase, F. D., Coorey, B., Riley, L., et al. (2021). Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models. Frontiers in Neuroscience15, 698812. https://doi.org/10.3389/fnins.2021.698812

Brand, B. A., Blesson, A. E., & Smith-Hicks, C. L. (2021). The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders. Brain Sciences11(7). https://doi.org/10.3390/brainsci11070904

Buckley, N., Stahlhut, M., Elefant, C., et al. (2021). Parent and therapist perspectives on “uptime” activities and participation in Rett syndrome. Disability and Rehabilitation, 1–8. https://doi.org/10.1080/09638288.2021.1992026

Kamekura, N., Hojo, T., Nitta, Y., et al. (2021). Anesthetic management of a rett syndrome patient at high risk for respiratory complications. Anesthesia Progress68(3), 163–167. https://doi.org/10.2344/anpr-68-02-07

Kanashvili, B., Rogers, K. J., Shrader, M. W., et al. (2021). Hip displacement in MECP2 disorders: prevalence and risk factors. Journal of Pediatric Orthopedics41(9), e800–e803. https://doi.org/10.1097/BPO.0000000000001898

Lotan, M., Ippolito, E., Favetta, M., & Romano, A. (2021). Skype Supervised, Individualized, Home-Based Rehabilitation Programs for Individuals With Rett Syndrome and Their Families – Parental Satisfaction and Point of View. Frontiers in Psychology12, 720927. https://doi.org/10.3389/fpsyg.2021.720927

Wandin, H., Lindberg, P., & Sonnander, K. (2021). Aided language modelling, responsive communication and eye-gaze technology as communication intervention for adults with Rett syndrome: three experimental single case studies. Disability and Rehabilitation. Assistive Technology, 1–15. https://doi.org/10.1080/17483107.2021.1967469

Borst, H., Weeda, J., Downs, J., et al. (2021). The Rett Syndrome Gross Motor Scale – Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome. Developmental Neurorehabilitation, 1–7. https://doi.org/10.1080/17518423.2021.1960920

Bisgaard, A.-M., Wong, K., Højfeldt, A.-K., et al. (2021). Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.62429

Romano, A., Di Rosa, G., Tisano, A., et al. (2021). Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home. Disability and Rehabilitation, 1–11. https://doi.org/10.1080/09638288.2021.1949398

Downs, J., Wong, K., Drummond, C., & Leonard, H. (2021). Longitudinal evaluation of the stability of hand function in rett syndrome. The Journal of Pediatrics. https://doi.org/10.1016/j.jpeds.2021.06.060

Ward, C., Chiat, S., & Townend, G. S. (2021). A comparison of formal and informal methods for assessing language and cognition in children with Rett syndrome. Research in Developmental Disabilities114, 103961. https://doi.org/10.1016/j.ridd.2021.103961

Dovigo, L., Caprì, T., Iannizzotto, G., et al. (2021). Social and Cognitive Interactions Through an Interactive School Service for RTT Patients at the COVID-19 Time. Frontiers in Psychology12, 676238. https://doi.org/10.3389/fpsyg.2021.676238

Fabio, R. A., Pergolizzi, G., Nucita, A., et al. (2021). The role of a virtual avatar in attention and memory tasks in Rett syndrome. BMC Neurology21(1), 223. https://doi.org/10.1186/s12883-021-02212-w

Rose, S. A., Wass, S. V., Jankowski, J. J., & Djukic, A. (2021). Measures of attention in Rett syndrome: Internal consistency reliability. Neuropsychology. https://doi.org/10.1037/neu0000744

Lai, Y. Y. L., Downs, J., Zafar, S., et al. (2021). Oral health care and service utilisation in individuals with Rett syndrome: an international cross-sectional study. Journal of Intellectual Disability Research65(6), 561–576. https://doi.org/10.1111/jir.12834

Pascual-Alonso, A., Martínez-Monseny, A. F., Xiol, C., & Armstrong, J. (2021). MECP2-Related Disorders in Males. International Journal of Molecular Sciences22(17). https://doi.org/10.3390/ijms22179610

Singh, J., Lanzarini, E., Nardocci, N., & Santosh, P. (2021). Movement Disorders in Patients with Rett Syndrome: A Systematic Review of Evidence and Associated Clinical Considerations. Psychiatry and Clinical Neurosciences. https://doi.org/10.1111/pcn.13299

Borloz, E., Villard, L., & Roux, J.-C. (2021). Rett syndrome: think outside the (skull) box. Faculty Reviews10, 59. https://doi.org/10.12703/r/10-59

Inuzuka, L. M., Guerra-Peixe, M., Macedo-Souza, L. I., et al. (2021). MECP2-related conditions in males: A systematic literature review and 8 additional cases. European Journal of Paediatric Neurology34, 7–13. https://doi.org/10.1016/j.ejpn.2021.05.013